Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895748135> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2895748135 abstract "Abstract Background Familial Parkinson's Disease (familial PD) and Early-Onset Parkinson's Disease (EOPD) are both uncommon disorders. Genetic analyses of familial EOPD have been limited due to its rarity. Here, we report four members of a family with familial EOPD carrying a novel mtDNA variation. Case report Four members of a family presenting with bradykinesia, muscular rigidity and resting tremor were diagnosed as having familial EOPD. The patients’ peripheral blood was analyzed for the presence of three previously known mtDNA variations in PD, viz m.4216T>C, m.4917A>G, and m.15928G>A using PCR-RFLP; none of these variants were identified in the four patients. However, we found a novel mtDNA m.4079A>G variation in ND1 (NADH dehydrogenase 1) gene in all the tested four family members. Discussion The m.4079A>G is a missense variation giving rise to a Tyr-Cys aminoacid substitution in ND1 protein (ND1:p.Tyr258Cys). This may lead to a defective protein influencing oxidative phosphorylation. Therefore, wider analyses of mRNA expression, protein transcription, and functional neuroimaging of brain energy metabolism are required in EOPD patients." @default.
- W2895748135 created "2018-10-12" @default.
- W2895748135 creator A5060584519 @default.
- W2895748135 creator A5074508842 @default.
- W2895748135 creator A5074918081 @default.
- W2895748135 creator A5085064648 @default.
- W2895748135 date "2018-11-01" @default.
- W2895748135 modified "2023-09-24" @default.
- W2895748135 title "Novel missense mitochondrial DNA 4079A>G variation in familial early-onset Parkinson’s disease" @default.
- W2895748135 cites W1893583696 @default.
- W2895748135 cites W1977963038 @default.
- W2895748135 cites W1993271384 @default.
- W2895748135 cites W2013820172 @default.
- W2895748135 cites W2045310022 @default.
- W2895748135 cites W2076464957 @default.
- W2895748135 cites W2123797821 @default.
- W2895748135 cites W2135606077 @default.
- W2895748135 cites W2153809426 @default.
- W2895748135 cites W2502717822 @default.
- W2895748135 cites W2508437487 @default.
- W2895748135 cites W2584311212 @default.
- W2895748135 cites W2604993683 @default.
- W2895748135 cites W2745175390 @default.
- W2895748135 cites W2792058112 @default.
- W2895748135 doi "https://doi.org/10.1016/j.baga.2018.10.001" @default.
- W2895748135 hasPublicationYear "2018" @default.
- W2895748135 type Work @default.
- W2895748135 sameAs 2895748135 @default.
- W2895748135 citedByCount "0" @default.
- W2895748135 crossrefType "journal-article" @default.
- W2895748135 hasAuthorship W2895748135A5060584519 @default.
- W2895748135 hasAuthorship W2895748135A5074508842 @default.
- W2895748135 hasAuthorship W2895748135A5074918081 @default.
- W2895748135 hasAuthorship W2895748135A5085064648 @default.
- W2895748135 hasConcept C104317684 @default.
- W2895748135 hasConcept C126322002 @default.
- W2895748135 hasConcept C24586158 @default.
- W2895748135 hasConcept C2779134260 @default.
- W2895748135 hasConcept C2779734285 @default.
- W2895748135 hasConcept C501734568 @default.
- W2895748135 hasConcept C54355233 @default.
- W2895748135 hasConcept C71924100 @default.
- W2895748135 hasConcept C75563809 @default.
- W2895748135 hasConcept C86803240 @default.
- W2895748135 hasConceptScore W2895748135C104317684 @default.
- W2895748135 hasConceptScore W2895748135C126322002 @default.
- W2895748135 hasConceptScore W2895748135C24586158 @default.
- W2895748135 hasConceptScore W2895748135C2779134260 @default.
- W2895748135 hasConceptScore W2895748135C2779734285 @default.
- W2895748135 hasConceptScore W2895748135C501734568 @default.
- W2895748135 hasConceptScore W2895748135C54355233 @default.
- W2895748135 hasConceptScore W2895748135C71924100 @default.
- W2895748135 hasConceptScore W2895748135C75563809 @default.
- W2895748135 hasConceptScore W2895748135C86803240 @default.
- W2895748135 hasLocation W28957481351 @default.
- W2895748135 hasOpenAccess W2895748135 @default.
- W2895748135 hasPrimaryLocation W28957481351 @default.
- W2895748135 hasRelatedWork W1551096830 @default.
- W2895748135 hasRelatedWork W2029282672 @default.
- W2895748135 hasRelatedWork W2053197930 @default.
- W2895748135 hasRelatedWork W2089103456 @default.
- W2895748135 hasRelatedWork W2113657340 @default.
- W2895748135 hasRelatedWork W2178452790 @default.
- W2895748135 hasRelatedWork W2347353220 @default.
- W2895748135 hasRelatedWork W2383606979 @default.
- W2895748135 hasRelatedWork W2980850988 @default.
- W2895748135 hasRelatedWork W2062117000 @default.
- W2895748135 isParatext "false" @default.
- W2895748135 isRetracted "false" @default.
- W2895748135 magId "2895748135" @default.
- W2895748135 workType "article" @default.